MCID: FML015
MIFTS: 34

Familial Nephrotic Syndrome

Categories: Nephrological diseases, Genetic diseases, Rare diseases, Blood diseases, Immune diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 38 12 25 15
Congenital Nephrotic Syndrome 12 76 25
Nephrosis, Congenital 44 73
Finnish Congenital Nephrotic Syndrome 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
ICD10 33 N04
MeSH 44 C535761
NCIt 50 C35337
SNOMED-CT 68 197602005 48796009

Summaries for Familial Nephrotic Syndrome

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 1 and nephrotic syndrome, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, and related phenotypes are cardiovascular system and renal/urinary system

Wikipedia : 76 Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and... more...

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome 14 Nephrotic Syndrome 15
Nephrotic Syndrome 16 Familial Nephrotic Syndrome

Diseases related to Familial Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 1 31.5 ACTN4 CD2AP NPHS1 NPHS2 WT1
2 nephrotic syndrome 27.4 ACTN4 CD2AP ITGA3 NPHS1 NPHS2 PLCE1
3 focal segmental glomerulosclerosis 1 26.1 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 TRPC6
4 focal segmental glomerulosclerosis 25.1 ACTN4 CD2AP KIRREL2 NPHS1 NPHS2 PLCE1
5 congenital nephrotic syndrome finnish type 12.4
6 pierson syndrome 11.9
7 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.6
8 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.4 NPHS1 NPHS2
9 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.3 PLCE1 WT1
10 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.3 CD2AP NPHS2
11 kidney hypertrophy 10.2 NPHS1 NPHS2
12 nail-patella syndrome 10.0 CD2AP NPHS2
13 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.0 NPHS1 PLCE1 WT1
14 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 ACTN4 NPHS1 NPHS2
15 atrial septal defect 3 10.0 CD2AP NPHS1 NPHS2
16 lipoid nephrosis 9.9 CD2AP NPHS1 NPHS2
17 galloway-mowat syndrome 9.9 ACTN4 NPHS1 NPHS2
18 crescentic glomerulonephritis 9.9 NPHS2 WT1
19 iga glomerulonephritis 9.8 CD2AP NPHS1 NPHS2
20 urinary system disease 9.8 NPHS1 NPHS2
21 diffuse mesangial sclerosis 9.6 NPHS1 NPHS2 PLCE1 WT1
22 end stage renal failure 9.6 NPHS1 NPHS2 PLCE1 WT1
23 ovarian cancer 9.6
24 nephrocalcinosis 9.6
25 complement deficiency 9.6
26 denys-drash syndrome 9.5 CD2AP NPHS1 NPHS2 WT1
27 chronic kidney failure 9.5 ACTN4 NPHS1 NPHS2 WT1
28 membranous nephropathy 9.0 CD2AP NPHS1 NPHS2 TRPC6
29 kidney disease 9.0 ACTN4 CD2AP NPHS1 NPHS2 WT1
30 frasier syndrome 8.7 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ACTN4 CD2AP ITGA3 NPHS2 PLCE1 TRPC6
2 renal/urinary system MP:0005367 9.1 ITGA3 NPHS1 NPHS2 WT1 ACTN4 CD2AP

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Cochrane evidence based reviews: nephrosis, congenital

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Potential therapeutic candidate, affected by disease

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show all 13)
# Title Authors Year
1
Familial nephrotic syndrome: PLCE1 enters the fray. ( 17449496 )
2007
2
Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications? ( 16396961 )
2006
3
Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene. ( 16354237 )
2005
4
Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13. ( 10720940 )
2000
5
Adult familial nephrotic syndrome--Balkan variant of congenital nephrotic syndrome. ( 9415939 )
1997
6
Familial nephrotic syndrome and HLA-DR5. ( 1868484 )
1991
7
Familial nephrotic syndrome and focal segmental glomerulosclerosis. ( 7193718 )
1981
8
Familial nephrotic syndrome with focal glomerular sclerosis. ( 7001902 )
1980
9
Familial nephrotic syndrome. ( 4129268 )
1974
10
Familial nephrotic syndrome with nephrocalcinosis and tubular dysfunction. ( 4684364 )
1973
11
The familial nephrotic syndrome. I. A European survey. ( 4783718 )
1973
12
The familial nephrotic syndrome. II. A clinicopathological study. ( 4206018 )
1973
13
Familial nephrotic syndrome. ( 4536424 )
1973

Variations for Familial Nephrotic Syndrome

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.76 CD2AP ITGA3 KIRREL2 KIRREL3 NPHS1 NPHS2
2 cell-cell junction GO:0005911 9.26 ACTN4 CD2AP KIRREL2 NPHS2
3 slit diaphragm GO:0036057 8.92 KIRREL2 NPHS1 NPHS2 TRPC6

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.43 ITGA3 PLCE1 WT1
2 excretion GO:0007588 9.16 NPHS1 NPHS2
3 glomerulus development GO:0032835 8.96 PLCE1 WT1
4 glomerular basement membrane development GO:0032836 8.62 NPHS1 WT1

Molecular functions related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.32 ACTN4 CD2AP ITGA3 KIRREL2 KIRREL3 NPHS1

Sources for Familial Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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